ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8100T>C (p.Asn2700=) (rs761326128)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163313 SCV000213841 likely benign Hereditary cancer-predisposing syndrome 2016-11-23 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000205888 SCV000260637 likely benign Familial adenomatous polyposis 1 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260617 SCV000452054 uncertain significance APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000205888 SCV000487776 likely benign Familial adenomatous polyposis 1 2015-11-20 criteria provided, single submitter clinical testing
Color RCV000163313 SCV000681910 likely benign Hereditary cancer-predisposing syndrome 2016-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000602636 SCV000722160 likely benign not specified 2017-08-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000602636 SCV001361152 likely benign not specified 2019-02-14 criteria provided, single submitter clinical testing Variant summary: The variant, APC c.8100T>C results in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.1e-05 in 277052 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.8100T>C in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign (X5) or uncertain significance (X1). Based on the evidence outlined above, the variant was classified as likely benign.

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